Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder with variable expressivity. It is characterized by dysgenesis of the anterior segment of the eye together with dental, cardiac, and umbilical anomalies. There is a high incidence of secondary high tension glaucoma. It is a genetically heterogeneous condition due to deletion or mutations of FOXC1 (6p25) or PITX2 (4q25). We report on four unrelated patients with overlapping microdeletions encompassing PITX2 at 4q25. We compare the genotypes and phenotypes of these newly described ARS patients and discuss the involvement of contiguous genes. Patients 1, 2, and 3 had mild learning difficulties, not typically seen in patients with ARS. We implicate the adjacent neuronally expressed genes; NEUROG2, UGT8, NDST3, and PRSS12 as potentially causal. Our findings support the use of microarray analysis in ARS patients for full prognostic information in infants presenting with ARS-like phenotypes.
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Article Synopsis
- - Axenfeld-Rieger syndrome (ARS) is a genetic disorder with eye and systemic symptoms, showing variability among patients; this study presents two cases (a boy and his mother) with a new genetic variant linked to ARS.
- - The proband, a 3-month-old boy, exhibited several abnormalities including eye development issues, skin and dental problems, and a heart condition, while his mother has been blind since age 12; genetic testing revealed a specific deletion in their DNA.
- - The findings indicate that this deletion leads to ARS phenotype type I, highlighting that certain genetic mutations in the affected gene are common causes of the disorder, thus improving understanding of ARS manifestations.
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